Camptodactyly and the 22q11.2 deletion syndrome

Am J Med Genet A. 2017 Feb;173(2):515-518. doi: 10.1002/ajmg.a.38029. Epub 2016 Oct 28.

Abstract

We describe a 5-day-old male with minor facial anomalies, a congenital laryngeal web, severe laryngomalacia, and prominent fixed flexion of the proximal interphalangeal joints of digits 2 through 5 bilaterally. A whole genome SNP microarray analysis identified a 2.55 Mb interstitial deletion of 22q11.21, typical of that seen in the DiGeorge and Velocardiofacial syndromes. A review of the literature identifies 10 other cases with camptodactyly. Camptodactyly appears to be an associated but rarely reported anomaly in patients with the 22q11.2 microdeletion syndrome. © 2016 Wiley Periodicals, Inc.

Keywords: 22q11 microdeletion syndrome (22q11.2DS); DiGeorge syndrome (DGS); camptodactyly; laryngeal web; laryngomalacia; sub-glottic stenosis; velocardiofacial syndrome (VCFS).

Publication types

  • Case Reports

MeSH terms

  • Abnormalities, Multiple / diagnosis
  • Abnormalities, Multiple / genetics
  • DiGeorge Syndrome / diagnosis*
  • DiGeorge Syndrome / genetics*
  • Genetic Association Studies
  • Hand Deformities, Congenital / diagnosis*
  • Hand Deformities, Congenital / genetics*
  • Humans
  • Infant, Newborn
  • Male
  • Oligonucleotide Array Sequence Analysis
  • Phenotype*
  • Physical Examination
  • Polymorphism, Single Nucleotide